Association of genotype with treatment response and prognosis in dilated cardiomyopathy

Introduction and objectives: Left ventricular reverse remodeling (LVRR) is a key therapeutic goal in dilated cardiomyopathy (DCM). However, its genetic predictors and prognostic impact remain uncertain. Methods: We analyzed genotyped DCM patients with serial echocardiograms from the Spanish DCM stud...

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Detalles Bibliográficos
Autores: Mora-Ayestarán, Nerea, Ochoa, Juan Pablo, Espinosa Castro, María Ángeles, Navarro Peñalver, Marina, Villacorta, Eduardo, Crespo Leiro, Maria G., Climent Payá, V., Lacuey Lecumberri, Gemma, Peña Peña, María Luisa, Bermudez Jimenez, F. J., García Pinilla, José M., Mogollón Jiménez, María Victoria, Limeres, Javier, García Álvarez, Ana, Bayes-Genis, Antoni, Palomino-Doza, Julián, Tiron de Llano, Coloma, Ripoll Vera, Tomás, López, Javier, Brion, María, Vilches Saez, Silvia, Sabater Molina, Maria, García Berroca, Belén, Larrañaga Moreira, José María, García-Álvarez, María I., Basurte Elorz, Maria Teresa, Llamas Gómez, Helena, Méndez, Irene, Garrido Bravo, Iris P., González-López, Esther, Gallego Delgado, María, Barriales Villa, Roberto, Lara Pezzi, Enrique, García Pavía, Pablo, Dominguez Garcia, Fernando
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:dnet:recercat____::8bb50033d35e5137bb755745a9fac595
Acceso en línea:http://hdl.handle.net/10256/28826
https://hdl.handle.net/10256/28826
Access Level:acceso abierto
Palabra clave:Cor--Malalties
Heart--Diseases
Genètica
Genetics
Prognosi
Prognosis
Descripción
Sumario:Introduction and objectives: Left ventricular reverse remodeling (LVRR) is a key therapeutic goal in dilated cardiomyopathy (DCM). However, its genetic predictors and prognostic impact remain uncertain. Methods: We analyzed genotyped DCM patients with serial echocardiograms from the Spanish DCM study. The main objective was to assess the influence of genotype on LVRR, defined by improvement in ejection fraction within 12 ± 6 months. Secondary endpoints included major adverse cardiovascular events, end-stage heart failure (HF), and major ventricular arrhythmias. Results: A total of 711 patients were included (67% male, mean age 50.8 years, baseline ejection fraction 31%, 44% genotype positive). LVRR occurred in 39% of genotype-positive vs 47% of genotype-negative patients (P = .036). Independent predictors of LVRR were TTN variants, lower baseline ejection fraction, and HF admission at diagnosis. In contrast, desmosomal, nuclear envelope and motor sarcomeric gene variants were associated with a lower likelihood of LVRR. During a median follow-up of 4.5 years, 26% of patients with initial LVRR showed subsequent deterioration, which was more frequent among genotype-positive individuals (32% vs 22%, P = .054). Compared with patients with sustained LVRR, those with deterioration had worse outcomes, including higher rates of major cardiovascular events (25% vs 7%), end-stage HF (18% vs 1%), and ventricular arrhythmia (12% vs 4%) (all P < .05). Conclusions: Genotype is a major determinant of both initial and long-term LVRR. Loss of ejection fraction improvement is common and strongly associated with adverse outcomes.

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